fr
Article scientifique
Anglais

A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects

Publié dansGenomics, vol. 79, no. 4, p. 493-498
Date de publication2002
Résumé

Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that this translocation does not disrupt any gene, hence it most likely exerts its deleterious effect by modifying gene regulation. The HOXD complex lies approximately 60 kb from the translocation breakpoint on chromosome 2. This cluster of genes has an important role in the development of both the vertebral column and the limbs. Only a few cases of mutations of these homeotic genes have been described so far in humans. However, gain- and loss-of-function of Hoxd genes in mice can induce mesomelic dysplasia-like phenotypes, suggesting that misexpression of HOXD genes may indeed be at the origin of this hereditary phenotype.

Mots-clés
  • Arm/abnormalities
  • Basic Helix-Loop-Helix Transcription Factors
  • Bone Diseases, Developmental/ genetics/pathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2/genetics
  • Chromosomes, Human, Pair 8/genetics
  • DNA-Binding Proteins/genetics
  • Evolution, Molecular
  • Female
  • Genes, Homeobox
  • Homeodomain Proteins/genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leg/abnormalities
  • Male
  • Sequence Analysis, DNA
  • Spine/ abnormalities
  • Transcription Factors/genetics
  • Translocation, Genetic
  • Zebrafish Proteins
Citation (format ISO)
SPITZ, François et al. A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. In: Genomics, 2002, vol. 79, n° 4, p. 493–498. doi: 10.1006/geno.2002.6735
Fichiers principaux (1)
Article
accessLevelRestricted
Identifiants
ISSN du journal0888-7543
488vues
2téléchargements

Informations techniques

Création12.07.2010 12:00:38
Première validation12.07.2010 12:00:38
Heure de mise à jour14.03.2023 15:52:57
Changement de statut14.03.2023 15:52:57
Dernière indexation12.02.2024 18:57:24
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack